Protein level identifier (NP_000311):
p.Tyr150Cys
cDNA level identifier (NM_000320):
c.449A>G
Gene level identifier:
g.19907A>G
Reference, alternative allele:
T, C
Genomic location hg(0)
4:17493951 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).